Orphanet: Global developmental delay neuro ophthalmological abnormalities seizures intellectual disability syndrome

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Disease definition

A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.

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Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

ORPHA:488613

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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